@jimd-editors
The Journal of Inherited Metabolic Disease (JIMD) is the official journal of the Society for the Study of Inborn Errors of Metabolism (SSIEM). Social Media maintained by James Nurse
A new MS/MS method for quantitative succinylacetone measurement improves sensitivity and specificity for diagnosing/monitoring tyrosinemia t1.
✔ Improved analytical specificity
✔ Useful for NBS follow-up and NTBC monitoring
onlinelibrary.wiley.com/doi/10.1002/...
#IMD #Tyrosinemia #RareDisease
TFP deficiency isn’t just an energy problem. New work suggests a role in cardiolipin remodeling, opening the door to elamipretide as add-on therapy.
Prof Eduardo Vieira Neto discusses mice, fibroblasts, and the hunt for biomarkers to find responders.
open.spotify.com/episode/0Hv9...
Antenatal diagnosis → planned neonatal care → avoided metabolic decompensation.
This JIMD Reports case series shows how expectant management in siblings with carbonic anhydrase VA deficiency can change early outcomes in an ultra-rare IMD.
🔗 onlinelibrary.wiley.com/doi/10.1002/...
#RareDisease #IMD
Ahead of #RareDiseaseDay (28 Feb), an important reminder: rare diseases can have rare presentations.
Lynch et al. report adult-diagnosed GSD1b in siblings with prolonged fasting tolerance and minimal neutropenia
doi.org/10.1002/jmd2...
#RareDisease #GSD1b #IMD #GenomicMedicine
A sobering case of treatable molybdenum cofactor deficiency—diagnosed within hours, yet with rapid, unexpected decline before therapy could begin.
In this Shortcast, Dr Molly Crenshaw reflects on urgency, optimism, and why early biochemical testing still matters open.spotify.com/episode/1p3w...
New in JIMD Reports:
Open-label phase 2/3 substudy of intrathecal idursulfase-IT in children <3 years with neuronopathic MPS II.
Reports long-term follow-up with generally stable cognitive assessments and reduced CSF GAG levels in a small cohort.
🔗 doi.org/10.1002/jmd2...
#MPSII #HunterSyndrome# IMD
New in JIMD Reports: clinical and genetic insights into MSUD from Palestine, including neurodevelopmental outcomes after liver transplantation.
A valuable real-world perspective from a resource-limited setting.
🔗 doi.org/10.1002/jmd2...
#MSUD #RareDisease #IMD #LiverTransplant
Reducing the diagnostic odyssey in IMDs 🧠
Expert-designed fact sheets + AI/NLP validation using real hospital data show real promise for earlier diagnosis and referral.
Open access in J Inherit Metab Dis 👉 doi.org/10.1002/jimd...
#RareDisease #IMD #AIinMedicine #JIMD
Can newborn screening predict severity in VLCADD?
Neonatal C18:2-carnitine (linoleylcarnitine) identifies infants at risk of severe disease immediately after NBS helping tailor treatment and monitoring from day one.
🔗 doi.org/10.1002/jimd...
Pregnancy outcomes in Gaucher disease: real-world data from the ICGG Registry.
110 imiglucerase-treated pregnancies → 88.5% live births, no stillbirths, miscarriage risk similar to the general population.
🔗 doi.org/10.1002/jimd...
Do adults with early-treated #PKU show altered brain ageing?
MRI-based brain age modelling reveals a higher insular brain age gap (~6 years) despite early treatment — pointing to region-specific vulnerability rather than global ageing.
🔗 doi.org/10.1002/jimd... @emmavardy2.bsky.social
A powerful JIMD study reports a cluster of severe arginase-1 deficiency in children from Mayotte & the Comoros, linked to a founder effect. Early diagnosis = normal outcomes; delayed diagnosis = high morbidity & mortality.
🔗 doi.org/10.1002/jimd...
VUS ≠ surveillance.
In The Grey Zone Project, Lund et al. propose LPC-based risk stratification for ABCD1 variants detected via newborn screening.
Biochemistry — not variant label — determines monitoring intensity.
Read: doi.org/10.1002/jimd...
#ALD #NewbornScreening #RareDisease #JIMD
Women with Anderson–Fabry disease are still being missed.
This meta-analysis shows genetic testing detects ~4× more cases than enzymatic tests in high-risk women — especially after stroke.
Normal enzymes ≠ no Fabry.
doi.org/10.1002/jimd...
#FabryDisease #RareDisease
Largest natural-history study of arginase-1 deficiency to date (n=48).
International trial data show universal motor impairment, frequent cognitive & speech deficits, reduced quality of life — and delayed diagnosis.
🔗 doi.org/10.1002/jimd...
Don’t forget to tag the journal when sharing your paper.
New JIMD Reports case: severe hyperglycaemia and lactic acidosis in propionic acidemia, without hyperammonaemia. A clear look at how secondary mitochondrial dysfunction can shape acute management decisions in PA crises.
doi.org/10.1002/jmd2...
RHADS is often taught as POLG-specific but it may not be.
This case series describes RHADS and RHADS-like EEG patterns in SDHA deficiency, broadening the epilepsy phenotype of mitochondrial disease.
Worth reading if you see refractory epilepsy + “POLG-like” EEGs.
doi.org/10.1002/jmd2...
Primary mitochondrial disease supplement prescribing is 95%+ common, but globally non-uniform.
No universal cocktail. Age & phenotype shape practice.
Big Atlantic differences. Real risks of harm.
Listen now: open.spotify.com/episode/2wdU...
Access to IMD therapies is becoming one of the defining equity challenges in rare disease.
Cabello & Salinas examine why lifesaving IMD drugs remain out of reach in much of Latin America and what ethical, regulatory, and policy changes are needed to close the gap.
📄 doi.org/10.1002/jimd...
New case report in JIMD Reports:
A novel PCK1 variant causing cytosolic PEPCK deficiency in two siblings, with dramatically different phenotypes, including reversible acute liver failure.
Hyperglutaminemia + normal ammonia = key diagnostic clue.
doi.org/10.1002/jmd2...
#RareDisease #IMD #PCK1
🧠 New in JIMD: NKH is not just “high glycine”.
This mouse model shows disrupted one-carbon folate metabolism, serine deficiency, and downstream lipid/myelination effects, pointing to new therapeutic targets beyond glycine lowering.
🔗 doi.org/10.1002/jimd...
#NKH #IMD #Metabolism
Dr Herodes Guzman talks through a striking GSDIa case series where lactic acidosis persisted despite hypoglycaemia correction—prompting fresh thinking about mitochondrial involvement in metabolic crisis.
Listen now: open.spotify.com/episode/2gRr...
#GSDIa #IMD #RareDisease #MetabolicMedicine
📊 Brazilian MPS I patients show diverse pathogenic variants, including novel changes with implications for genotype–phenotype correlation.
A must-read for clinicians & researchers in metabolic disease.
🔗 doi.org/10.1002/jimd...
#IMD #Genomics #Pediatrics
In a multicentre cohort of 202 patients, Kristensen et al. show:
• >50% develop liver disease
• Highest risk in early-onset POLG
• Infection-associated onset and polymerase-domain variants increase risk
• Liver involvement strongly predicts poor survival
doi.org/10.1002/jimd...
#POLG #Mitodisease
Earlier ERT = better hearts 🫀
In infantile-onset Pompe disease, starting ERT ≤1 month leads to faster LVMI normalisation and improved cardiac remodelling.
Another strong case for newborn screening and rapid treatment.
🔗 doi.org/10.1002/jmd2...
#PompeDisease #IMD #NewbornScreening
Why does mitochondrial disease still take ~8 years to diagnose?
This study shows most delay happens before suspicion, despite early seizures, hypotonia & stroke being documented years earlier.
Recognition — not testing — is the bottleneck.
doi.org/10.1002/jmd2...
Severe neonatal GABA-T (ABAT) deficiency: 3 siblings with early lethal encephalopathy, burst-suppression & cerebellar malformations.
Key message: urine GABA quantification may be a useful, accessible screening test.
Alammary et al
doi.org/10.1002/jmd2...
#IMD #NeonatalNeurology #ABAT #RareDisease
Pregnancy in long-chain FAODs: new multicentre survey (89 pregnancies, 39 women) shows generally favourable outcomes, but ~20% risk of metabolic decompensation, especially post-partum.
Important data for counselling & peripartum planning.
doi.org/10.1002/jimd...
#FAOD #IMD #Pregnancy
